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Analysis of EHE genetic mutations continues

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29 December 2017

Dr Rubin has been working through 2017 on evaluating if other secondary gene fusions (mutations) may be present in progressive EHE. Of 30 patient samples included within his study, all tumours had the primary WWTR1(TAZ)-CAMTA1 gene mutation which is believed to be disease defining as it is seen in nearly all EHE tumours. 14 samples had only this primary fusion. However, in the other 16, secondary gene fusions were also identified, with between 1 and 4 additional mutations being present. Initial analysis suggests that the patients with secondary mutations had progressive EHE which in turn suggests that these secondary mutations may be key to EHE becoming more progressive. Dr Rubin will now be doing further work to try and identify more detailed clinical information for the different patients to see if he can build an even clearer picture of how these additional gene mutations are affecting the disease’s progression. Dr Rubin was able to present these findings at the 2017 CTOS conference in Hawaii where his poster was included within the programme.